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Immunodeficiency 9

GtoPdb Disease Summaries

This section gives an overview of the disease, and where available shows the following:

  • Synonyms: Shows known synonyms for the disease.
  • Description: Gives a basic description/definition of the disease.
  • Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
  • Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
  • Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.

More information can be found in the help pages.

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Disease ID:1257
Name:Immunodeficiency 9
Associated with:1 target
1 immuno-relevant target
Synonyms
Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Description
IMD9 is a severe, autosomal recessive disorder caused by loss-of-function mutations in the ORAI1 gene which result in deficient CRAC channel function, and defective T-cell activation. The disease is characterised by neonatal onset of recurrent infections, congenital myopathy and ectodermal dysplasia.
Database Links
OMIM: 612782

Targets

GtoPdb Disease Summaries - Targets

Click on the target name to link to its detailed view page

Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.

If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page

Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.

More information can be found in the help pages.

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Key to terms and symbols
Orai1
Comments:  Mutations in the human ORAI1 gene cause defective T cell activation and immune dysfunction.
References:  2-5

Ligands

GtoPdb Disease Summaries - Ligands

Click ligand name to view ligand summary page

  • Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
  • Immuno: Immuno icon indicates the ligand is immuno-relevant

Click the arrow in the final column to expand comments

  • Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
  • Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
  • Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.

More information can be found in the help pages.

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No ligand related data available for Immunodeficiency 9

References

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1. Feske S. (2011) Immunodeficiency due to defects in store-operated calcium entry. Ann N Y Acad Sci, 1238: 74-90. [PMID:22129055]

2. Feske S, Müller JM, Graf D, Kroczek RA, Dräger R, Niemeyer C, Baeuerle PA, Peter HH, Schlesier M. (1996) Severe combined immunodeficiency due to defective binding of the nuclear factor of activated T cells in T lymphocytes of two male siblings. Eur J Immunol, 26 (9): 2119-26. [PMID:8814256]

3. Le Deist F, Hivroz C, Partiseti M, Thomas C, Buc HA, Oleastro M, Belohradsky B, Choquet D, Fischer A. (1995) A primary T-cell immunodeficiency associated with defective transmembrane calcium influx. Blood, 85 (4): 1053-62. [PMID:7531512]

4. McCarl CA, Picard C, Khalil S, Kawasaki T, Röther J, Papolos A, Kutok J, Hivroz C, Ledeist F, Plogmann K et al.. (2009) ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. J Allergy Clin Immunol, 124 (6): 1311-1318.e7. [PMID:20004786]

5. Partiseti M, Le Deist F, Hivroz C, Fischer A, Korn H, Choquet D. (1994) The calcium current activated by T cell receptor and store depletion in human lymphocytes is absent in a primary immunodeficiency. J Biol Chem, 269 (51): 32327-35. [PMID:7798233]